Contemporary Homozygous Familial Hypercholesterolemia in the United States: Insights From the CASCADE FH Registry.
Journal Of The American Heart Association
Cuchel, Marina M; Lee, Paul C PC; Hudgins, Lisa C LC; Duell, P Barton PB; Ahmad, Zahid Z; Baum, Seth J SJ; Linton, MacRae F MF; de Ferranti, Sarah D SD; Ballantyne, Christie M CM; Larry, John A JA; Hemphill, Linda C LC; Kindt, Iris I; Gidding, Samuel S SS; Martin, Seth S SS; Moriarty, Patrick M PM; Thompson, Paul P PP; Underberg, James A JA; Guyton, John R JR; Andersen, Rolf L RL; Whellan, David J DJ; Benuck, Irwin I; Kane, John P JP; Myers, Kelly K; Howard, William W; Staszak, David D; Jamison, Allison A; Card, Mary C MC; Bourbon, Mafalda M; Chora, Joana R JR; Rader, Daniel J DJ; Knowles, Joshua W JW; Wilemon, Katherine K; McGowan, Mary P MP
Implicating genes, pleiotropy, and sexual dimorphism at blood lipid loci through multi-ancestry meta-analysis.
Genome Biology
Kanoni, Stavroula S; Graham, Sarah E SE; Wang, Yuxuan Y; Surakka, Ida I; Ramdas, Shweta S; Zhu, Xiang X; Clarke, Shoa L SL; Bhatti, Konain Fatima KF; Vedantam, Sailaja S; Winkler, Thomas W TW; Locke, Adam E AE; Marouli, Eirini E; Zajac, Greg J M GJM; Wu, Kuan-Han H KH; Ntalla, Ioanna I; Hui, Qin Q; Klarin, Derek D; Hilliard, Austin T AT; Wang, Zeyuan Z; Xue, Chao C; Thorleifsson, Gudmar G; Helgadottir, Anna A; Gudbjartsson, Daniel F DF; Holm, Hilma H; Olafsson, Isleifur I; Hwang, Mi Yeong MY; Han, Sohee S; Akiyama, Masato M; Sakaue, Saori S; Terao, Chikashi C; Kanai, Masahiro M; Zhou, Wei W; Brumpton, Ben M BM; Rasheed, Humaira H; Havulinna, Aki S AS; Veturi, Yogasudha Y; Pacheco, Jennifer Allen JA; Rosenthal, Elisabeth A EA; Lingren, Todd T; Feng, QiPing Q; Kullo, Iftikhar J IJ; Narita, Akira A; Takayama, Jun J; Martin, Hilary C HC; Hunt, Karen A KA; Trivedi, Bhavi B; Haessler, Jeffrey J; Giulianini, Franco F; Bradford, Yuki Y; Miller, Jason E JE; Campbell, Archie A; Lin, Kuang K; Millwood, Iona Y IY; Rasheed, Asif A; Hindy, George G; Faul, Jessica D JD; Zhao, Wei W; Weir, David R DR; Turman, Constance C; Huang, Hongyan H; Graff, Mariaelisa M; Choudhury, Ananyo A; Sengupta, Dhriti D; Mahajan, Anubha A; Brown, Michael R MR; Zhang, Weihua W; Yu, Ketian K; Schmidt, Ellen M EM; Pandit, Anita A; Gustafsson, Stefan S; Yin, Xianyong X; Luan, Jian'an J; Zhao, Jing-Hua JH; Matsuda, Fumihiko F; Jang, Hye-Mi HM; Yoon, Kyungheon K; Medina-Gomez, Carolina C; Pitsillides, Achilleas A; Hottenga, Jouke Jan JJ; Wood, Andrew R AR; Ji, Yingji Y; Gao, Zishan Z; Haworth, Simon S; Yousri, Noha A NA; Mitchell, Ruth E RE; Chai, Jin Fang JF; Aadahl, Mette M; Bjerregaard, Anne A AA; Yao, Jie J; Manichaikul, Ani A; Hwu, Chii-Min CM; Hung, Yi-Jen YJ; Warren, Helen R HR; Ramirez, Julia J; Bork-Jensen, Jette J; Kårhus, Line L LL; Goel, Anuj A; Sabater-Lleal, Maria M; Noordam, Raymond R; Mauro, Pala P; Matteo, Floris F; McDaid, Aaron F AF; Marques-Vidal, Pedro P; Wielscher, Matthias M; Trompet, Stella S; Sattar, Naveed N; Møllehave, Line T LT; Munz, Matthias M; Zeng, Lingyao L; Huang, Jianfeng J; Yang, Bin B; Poveda, Alaitz A; Kurbasic, Azra A; Lamina, Claudia C; Forer, Lukas L; Scholz, Markus M; Galesloot, Tessel E TE; Bradfield, Jonathan P JP; Ruotsalainen, Sanni E SE; Daw, EWarwick E; Zmuda, Joseph M JM; Mitchell, Jonathan S JS; Fuchsberger, Christian C; Christensen, Henry H; Brody, Jennifer A JA; Vazquez-Moreno, Miguel M; Feitosa, Mary F MF; Wojczynski, Mary K MK; Wang, Zhe Z; Preuss, Michael H MH; Mangino, Massimo M; Christofidou, Paraskevi P; Verweij, Niek N; Benjamins, Jan W JW; Engmann, Jorgen J; Tsao, Noah L NL; Verma, Anurag A; Slieker, Roderick C RC; Lo, Ken Sin KS; Zilhao, Nuno R NR; Le, Phuong P; Kleber, Marcus E ME; Delgado, Graciela E GE; Huo, Shaofeng S; Ikeda, Daisuke D DD; Iha, Hiroyuki H; Yang, Jian J; Liu, Jun J; Demirkan, Ayşe A; Leonard, Hampton L HL; Marten, Jonathan J; Frank, Mirjam M; Schmidt, Börge B; Smyth, Laura J LJ; Cañadas-Garre, Marisa M; Wang, Chaolong C; Nakatochi, Masahiro M; Wong, Andrew A; Hutri-Kähönen, Nina N; Sim, Xueling X; Xia, Rui R; Huerta-Chagoya, Alicia A; Fernandez-Lopez, Juan Carlos JC; Lyssenko, Valeriya V; Nongmaithem, Suraj S SS; Bayyana, Swati S; Stringham, Heather M HM; Irvin, Marguerite R MR; Oldmeadow, Christopher C; Kim, Han-Na HN; Ryu, Seungho S; Timmers, Paul R H J PRHJ; Arbeeva, Liubov L; Dorajoo, Rajkumar R; Lange, Leslie A LA; Prasad, Gauri G; Lorés-Motta, Laura L; Pauper, Marc M; Long, Jirong J; Li, Xiaohui X; Theusch, Elizabeth E; Takeuchi, Fumihiko F; Spracklen, Cassandra N CN; Loukola, Anu A; Bollepalli, Sailalitha S; Warner, Sophie C SC; Wang, Ya Xing YX; Wei, Wen B WB; Nutile, Teresa T; Ruggiero, Daniela D; Sung, Yun Ju YJ; Chen, Shufeng S; Liu, Fangchao F; Yang, Jingyun J; Kentistou, Katherine A KA; Banas, Bernhard B; Nardone, Giuseppe Giovanni GG; Meidtner, Karina K; Bielak, Lawrence F LF; Smith, Jennifer A JA; Hebbar, Prashantha P; Farmaki, Aliki-Eleni AE; Hofer, Edith E; Lin, Maoxuan M; Concas, Maria Pina MP; Vaccargiu, Simona S; van der Most, Peter J PJ; Pitkänen, Niina N; Cade, Brian E BE; van der Laan, Sander W SW; Chitrala, Kumaraswamy Naidu KN; Weiss, Stefan S; Bentley, Amy R AR; Doumatey, Ayo P AP; Adeyemo, Adebowale A AA; Lee, Jong Young JY; Petersen, Eva R B ERB; Nielsen, Aneta A AA; Choi, Hyeok Sun HS; Nethander, Maria M; Freitag-Wolf, Sandra S; Southam, Lorraine L; Rayner, Nigel W NW; Wang, Carol A CA; Lin, Shih-Yi SY; Wang, Jun-Sing JS; Couture, Christian C; Lyytikäinen, Leo-Pekka LP; Nikus, Kjell K; Cuellar-Partida, Gabriel G; Vestergaard, Henrik H; Hidalgo, Bertha B; Giannakopoulou, Olga O; Cai, Qiuyin Q; Obura, Morgan O MO; van Setten, Jessica J; Li, Xiaoyin X; Liang, Jingjing J; Tang, Hua H; Terzikhan, Natalie N; Shin, Jae Hun JH; Jackson, Rebecca D RD; Reiner, Alexander P AP; Martin, Lisa Warsinger LW; Chen, Zhengming Z; Li, Liming L; Kawaguchi, Takahisa T; Thiery, Joachim J; Bis, Joshua C JC; Launer, Lenore J LJ; Li, Huaixing H; Nalls, Mike A MA; Raitakari, Olli T OT; Ichihara, Sahoko S; Wild, Sarah H SH; Nelson, Christopher P CP; Campbell, Harry H; Jäger, Susanne S; Nabika, Toru T; Al-Mulla, Fahd F; Niinikoski, Harri H; Braund, Peter S PS; Kolcic, Ivana I; Kovacs, Peter P; Giardoglou, Tota T; Katsuya, Tomohiro T; de Kleijn, Dominique D; de Borst, Gert J GJ; Kim, Eung Kweon EK; Adams, Hieab H H HHH; Ikram, M Arfan MA; Zhu, Xiaofeng X; Asselbergs, Folkert W FW; Kraaijeveld, Adriaan O AO; Beulens, Joline W J JWJ; Shu, Xiao-Ou XO; Rallidis, Loukianos S LS; Pedersen, Oluf O; Hansen, Torben T; Mitchell, Paul P; Hewitt, Alex W AW; Kähönen, Mika M; Pérusse, Louis L; Bouchard, Claude C; Tönjes, Anke A; Chen, Yii-Der Ida YI; Pennell, Craig E CE; Mori, Trevor A TA; Lieb, Wolfgang W; Franke, Andre A; Ohlsson, Claes C; Mellström, Dan D; Cho, Yoon Shin YS; Lee, Hyejin H; Yuan, Jian-Min JM; Koh, Woon-Puay WP; Rhee, Sang Youl SY; Woo, Jeong-Taek JT; Heid, Iris M IM; Stark, Klaus J KJ; Zimmermann, Martina E ME; Völzke, Henry H; Homuth, Georg G; Evans, Michele K MK; Zonderman, Alan B AB; Polasek, Ozren O; Pasterkamp, Gerard G; Hoefer, Imo E IE; Redline, Susan S; Pahkala, Katja K; Oldehinkel, Albertine J AJ; Snieder, Harold H; Biino, Ginevra G; Schmidt, Reinhold R; Schmidt, Helena H; Bandinelli, Stefania S; Dedoussis, George G; Thanaraj, Thangavel Alphonse TA; Kardia, Sharon L R SLR; Peyser, Patricia A PA; Kato, Norihiro N; Schulze, Matthias B MB; Girotto, Giorgia G; Böger, Carsten A CA; Jung, Bettina B; Joshi, Peter K PK; Bennett, David A DA; De Jager, Philip L PL; Lu, Xiangfeng X; Mamakou, Vasiliki V; Brown, Morris M; Caulfield, Mark J MJ; Munroe, Patricia B PB; Guo, Xiuqing X; Ciullo, Marina M; Jonas, Jost B JB; Samani, Nilesh J NJ; Kaprio, Jaakko J; Pajukanta, Päivi P; Tusié-Luna, Teresa T; Aguilar-Salinas, Carlos A CA; Adair, Linda S LS; Bechayda, Sonny Augustin SA; de Silva, H Janaka HJ; Wickremasinghe, Ananda R AR; Krauss, Ronald M RM; Wu, Jer-Yuarn JY; Zheng, Wei W; Hollander, Anneke Iden AI; Bharadwaj, Dwaipayan D; Correa, Adolfo A; Wilson, James G JG; Lind, Lars L; Heng, Chew-Kiat CK; Nelson, Amanda E AE; Golightly, Yvonne M YM; Wilson, James F JF; Penninx, Brenda B; Kim, Hyung-Lae HL; Attia, John J; Scott, Rodney J RJ; Rao, D C DC; Arnett, Donna K DK; Hunt, Steven C SC; Walker, Mark M; Koistinen, Heikki A HA; Chandak, Giriraj R GR; Mercader, Josep M JM; Costanzo, Maria C MC; Jang, Dongkeun D; Burtt, Noël P NP; Villalpando, Clicerio Gonzalez CG; Orozco, Lorena L; Fornage, Myriam M; Tai, EShyong E; van Dam, Rob M RM; Lehtimäki, Terho T; Chaturvedi, Nish N; Yokota, Mitsuhiro M; Liu, Jianjun J; Reilly, Dermot F DF; McKnight, Amy Jayne AJ; Kee, Frank F; Jöckel, Karl-Heinz KH; McCarthy, Mark I MI; Palmer, Colin N A CNA; Vitart, Veronique V; Hayward, Caroline C; Simonsick, Eleanor E; van Duijn, Cornelia M CM; Jin, Zi-Bing ZB; Qu, Jia J; Hishigaki, Haretsugu H; Lin, Xu X; März, Winfried W; Gudnason, Vilmundur V; Tardif, Jean-Claude JC; Lettre, Guillaume G; Hart, Leen M 't LM'; Elders, Petra J M PJM; Damrauer, Scott M SM; Kumari, Meena M; Kivimaki, Mika M; van der Harst, Pim P; Spector, Tim D TD; Loos, Ruth J F RJF; Province, Michael A MA; Parra, Esteban J EJ; Cruz, Miguel M; Psaty, Bruce M BM; Brandslund, Ivan I; Pramstaller, Peter P PP; Rotimi, Charles N CN; Christensen, Kaare K; Ripatti, Samuli S; Widén, Elisabeth E; Hakonarson, Hakon H; Grant, Struan F A SFA; Kiemeney, Lambertus A L M LALM; de Graaf, Jacqueline J; Loeffler, Markus M; Kronenberg, Florian F; Gu, Dongfeng D; Erdmann, Jeanette J; Schunkert, Heribert H; Franks, Paul W PW; Linneberg, Allan A; Jukema, J Wouter JW; Khera, Amit V AV; Männikkö, Minna M; Jarvelin, Marjo-Riitta MR; Kutalik, Zoltan Z; Francesco, Cucca C; Mook-Kanamori, Dennis O DO; van Dijk, Ko Willems KW; Watkins, Hugh H; Strachan, David P DP; Grarup, Niels N; Sever, Peter P; Poulter, Neil N; Chuang, Lee-Ming LM; Rotter, Jerome I JI; Dantoft, Thomas M TM; Karpe, Fredrik F; Neville, Matt J MJ; Timpson, Nicholas J NJ; Cheng, Ching-Yu CY; Wong, Tien-Yin TY; Khor, Chiea Chuen CC; Li, Hengtong H; Sabanayagam, Charumathi C; Peters, Annette A; Gieger, Christian C; Hattersley, Andrew T AT; Pedersen, Nancy L NL; Magnusson, Patrik K E PKE; Boomsma, Dorret I DI; Willemsen, Allegonda H M AHM; Cupples, LAdrienne L; van Meurs, Joyce B J JBJ; Ghanbari, Mohsen M; Gordon-Larsen, Penny P; Huang, Wei W; Kim, Young Jin YJ; Tabara, Yasuharu Y; Wareham, Nicholas J NJ; Langenberg, Claudia C; Zeggini, Eleftheria E; Kuusisto, Johanna J; Laakso, Markku M; Ingelsson, Erik E; Abecasis, Goncalo G; Chambers, John C JC; Kooner, Jaspal S JS; de Vries, Paul S PS; Morrison, Alanna C AC; Hazelhurst, Scott S; Ramsay, Michèle M; North, Kari E KE; Daviglus, Martha M; Kraft, Peter P; Martin, Nicholas G NG; Whitfield, John B JB; Abbas, Shahid S; Saleheen, Danish D; Walters, Robin G RG; Holmes, Michael V MV; Black, Corri C; Smith, Blair H BH; Baras, Aris A; Justice, Anne E AE; Buring, Julie E JE; Ridker, Paul M PM; Chasman, Daniel I DI; Kooperberg, Charles C; Tamiya, Gen G; Yamamoto, Masayuki M; van Heel, David A DA; Trembath, Richard C RC; Wei, Wei-Qi WQ; Jarvik, Gail P GP; Namjou, Bahram B; Hayes, M Geoffrey MG; Ritchie, Marylyn D MD; Jousilahti, Pekka P; Salomaa, Veikko V; Hveem, Kristian K; Åsvold, Bjørn Olav BO; Kubo, Michiaki M; Kamatani, Yoichiro Y; Okada, Yukinori Y; Murakami, Yoshinori Y; Kim, Bong-Jo BJ; Thorsteinsdottir, Unnur U; Stefansson, Kari K; Zhang, Jifeng J; Chen, YEugene Y; Ho, Yuk-Lam YL; Lynch, Julie A JA; Rader, Daniel J DJ; Tsao, Philip S PS; Chang, Kyong-Mi KM; Cho, Kelly K; O'Donnell, Christopher J CJ; Gaziano, John M JM; Wilson, Peter W F PWF; Frayling, Timothy M TM; Hirschhorn, Joel N JN; Kathiresan, Sekar S; Mohlke, Karen L KL; Sun, Yan V YV; Morris, Andrew P AP; Boehnke, Michael M; Brown, Christopher D CD; Natarajan, Pradeep P; Deloukas, Panos P; Willer, Cristen J CJ; Assimes, Themistocles L TL; Peloso, Gina M GM
Unusual responses to PCSK9 inhibitors in a clinical cohort utilizing a structured follow-up protocol.
American Journal Of Preventive Cardiology
Warden, Bruce A BA; Miles, Joshua R JR; Oleaga, Carlota C; Ganda, Om P OP; Duell, P Barton PB; Purnell, Jonathan Q JQ; Shapiro, Michael D MD; Fazio, Sergio S
Determinants of penetrance and variable expressivity in monogenic metabolic conditions across 77,184 exomes.
Nature Communications
Goodrich, Julia K JK; Singer-Berk, Moriel M; Son, Rachel R; Sveden, Abigail A; Wood, Jordan J; England, Eleina E; Cole, Joanne B JB; Weisburd, Ben B; Watts, Nick N; Caulkins, Lizz L; Dornbos, Peter P; Koesterer, Ryan R; Zappala, Zachary Z; Zhang, Haichen H; Maloney, Kristin A KA; Dahl, Andy A; Aguilar-Salinas, Carlos A CA; Atzmon, Gil G; Barajas-Olmos, Francisco F; Barzilai, Nir N; Blangero, John J; Boerwinkle, Eric E; Bonnycastle, Lori L LL; Bottinger, Erwin E; Bowden, Donald W DW; Centeno-Cruz, Federico F; Chambers, John C JC; Chami, Nathalie N; Chan, Edmund E; Chan, Juliana J; Cheng, Ching-Yu CY; Cho, Yoon Shin YS; Contreras-Cubas, Cecilia C; Córdova, Emilio E; Correa, Adolfo A; DeFronzo, Ralph A RA; Duggirala, Ravindranath R; Dupuis, Josée J; Garay-Sevilla, Ma Eugenia ME; García-Ortiz, Humberto H; Gieger, Christian C; Glaser, Benjamin B; González-Villalpando, Clicerio C; Gonzalez, Ma Elena ME; Grarup, Niels N; Groop, Leif L; Gross, Myron M; Haiman, Christopher C; Han, Sohee S; Hanis, Craig L CL; Hansen, Torben T; Heard-Costa, Nancy L NL; Henderson, Brian E BE; Hernandez, Juan Manuel Malacara JMM; Hwang, Mi Yeong MY; Islas-Andrade, Sergio S; Jørgensen, Marit E ME; Kang, Hyun Min HM; Kim, Bong-Jo BJ; Kim, Young Jin YJ; Koistinen, Heikki A HA; Kooner, Jaspal Singh JS; Kuusisto, Johanna J; Kwak, Soo-Heon SH; Laakso, Markku M; Lange, Leslie L; Lee, Jong-Young JY; Lee, Juyoung J; Lehman, Donna M DM; Linneberg, Allan A; Liu, Jianjun J; Loos, Ruth J F RJF; Lyssenko, Valeriya V; Ma, Ronald C W RCW; Martínez-Hernández, Angélica A; Meigs, James B JB; Meitinger, Thomas T; Mendoza-Caamal, Elvia E; Mohlke, Karen L KL; Morris, Andrew D AD; Morrison, Alanna C AC; Ng, Maggie C Y MCY; Nilsson, Peter M PM; O'Donnell, Christopher J CJ; Orozco, Lorena L; Palmer, Colin N A CNA; Park, Kyong Soo KS; Post, Wendy S WS; Pedersen, Oluf O; Preuss, Michael M; Psaty, Bruce M BM; Reiner, Alexander P AP; Revilla-Monsalve, Cristina C; Rich, Stephen S SS; Rotter, Jerome I JI; Saleheen, Danish D; Schurmann, Claudia C; Sim, Xueling X; Sladek, Rob R; Small, Kerrin S KS; So, Wing Yee WY; Spector, Timothy D TD; Strauch, Konstantin K; Strom, Tim M TM; Tai, E Shyong ES; Tam, Claudia H T CHT; Teo, Yik Ying YY; Thameem, Farook F; Tomlinson, Brian B; Tracy, Russell P RP; Tuomi, Tiinamaija T; Tuomilehto, Jaakko J; Tusié-Luna, Teresa T; van Dam, Rob M RM; Vasan, Ramachandran S RS; Wilson, James G JG; Witte, Daniel R DR; Wong, Tien-Yin TY; , ; Burtt, Noël P NP; Zaitlen, Noah N; McCarthy, Mark I MI; Boehnke, Michael M; Pollin, Toni I TI; Flannick, Jason J; Mercader, Josep M JM; O'Donnell-Luria, Anne A; Baxter, Samantha S; Florez, Jose C JC; MacArthur, Daniel G DG; Udler, Miriam S MS
Publication Date: 2021-06-09
Variant appearance in text: LDLR: 1171G>A; Ala391Thr
Six years' experience with LipidSeq: clinical and research learnings from a hybrid, targeted sequencing panel for dyslipidemias.
Bmc Medical Genomics
Dron, Jacqueline S JS; Wang, Jian J; McIntyre, Adam D AD; Iacocca, Michael A MA; Robinson, John F JF; Ban, Matthew R MR; Cao, Henian H; Hegele, Robert A RA
Publication Date: 2020-02-10
Variant appearance in text: LDLR: 1171G>A; Ala391Thr
Phenotypic severity in a family with MEND syndrome is directly associated with the accumulation of potentially functional variants of cholesterol homeostasis genes.
Molecular Genetics & Genomic Medicine
Barboza-Cerda, María Carmen MC; Barboza-Quintana, Oralia O; Martínez-Aldape, Gerardo G; Garza-Guajardo, Raquel R; Déctor, Miguel Angel MA
Publication Date: 2019-09
Variant appearance in text: LDLR: 1171G>A; rs11669576
A reference collection of patient-derived cell line and xenograft models of proneural, classical and mesenchymal glioblastoma.
Scientific Reports
Stringer, Brett W BW; Day, Bryan W BW; D'Souza, Rochelle C J RCJ; Jamieson, Paul R PR; Ensbey, Kathleen S KS; Bruce, Zara C ZC; Lim, Yi Chieh YC; Goasdoué, Kate K; Offenhäuser, Carolin C; Akgül, Seçkin S; Allan, Suzanne S; Robertson, Thomas T; Lucas, Peter P; Tollesson, Gert G; Campbell, Scott S; Winter, Craig C; Do, Hongdo H; Dobrovic, Alexander A; Inglis, Po-Ling PL; Jeffree, Rosalind L RL; Johns, Terrance G TG; Boyd, Andrew W AW
Variability in assigning pathogenicity to incidental findings: insights from LDLR sequence linked to the electronic health record in 1013 individuals.
European Journal Of Human Genetics : Ejhg
Safarova, Maya S MS; Klee, Eric W EW; Baudhuin, Linnea M LM; Winkler, Erin M EM; Kluge, Michelle L ML; Bielinski, Suzette J SJ; Olson, Janet E JE; Kullo, Iftikhar J IJ
Publication Date: 2017-04
Variant appearance in text: LDLR: 1171G>A; Ala391Thr; rs11669576
The panorama of familial hypercholesterolemia in Latin America: a systematic review.
Journal Of Lipid Research
Mehta, Roopa R; Zubirán, Rafael R; Martagón, Alexandro J AJ; Vazquez-Cárdenas, Alejandra A; Segura-Kato, Yayoi Y; Tusié-Luna, María Teresa MT; Aguilar-Salinas, Carlos A CA
Variable expressivity and co-occurrence of LDLR and LDLRAP1 mutations in familial hypercholesterolemia: failure of the dominant and recessive dichotomy.
Molecular Genetics & Genomic Medicine
Fahed, Akl C AC; Khalaf, Ruby R; Salloum, Rony R; Andary, Rabih R RR; Safa, Raya R; El-Rassy, Inaam I; Moubarak, Elie E; Azar, Sami T ST; Bitar, Fadi F FF; Nemer, Georges G
Low-density lipoprotein receptor genetic polymorphism in chronic hepatitis C virus Egyptian patients affects treatment response.
World Journal Of Gastroenterology
Naga, Mazen M; Amin, Mona M; Algendy, Dina D; Elbadry, Ahmed A; Fawzi, May M; Foda, Ayman A; Esmat, Serag S; Sabry, Dina D; Rashed, Laila L; Gabal, Samia S; Kamal, Manal M
Whole-genome sequencing of the world's oldest people.
Plos One
Gierman, Hinco J HJ; Fortney, Kristen K; Roach, Jared C JC; Coles, Natalie S NS; Li, Hong H; Glusman, Gustavo G; Markov, Glenn J GJ; Smith, Justin D JD; Hood, Leroy L; Coles, L Stephen LS; Kim, Stuart K SK
Publication Date: 2014
Variant appearance in text: LDLR: A391T; rs11669576
NCI-60 whole exome sequencing and pharmacological CellMiner analyses.
Plos One
Reinhold, William C WC; Varma, Sudhir S; Sousa, Fabricio F; Sunshine, Margot M; Abaan, Ogan D OD; Davis, Sean R SR; Reinhold, Spencer W SW; Kohn, Kurt W KW; Morris, Joel J; Meltzer, Paul S PS; Doroshow, James H JH; Pommier, Yves Y
Meta-analysis of gene-level tests for rare variant association.
Nature Genetics
Liu, Dajiang J DJ; Peloso, Gina M GM; Zhan, Xiaowei X; Holmen, Oddgeir L OL; Zawistowski, Matthew M; Feng, Shuang S; Nikpay, Majid M; Auer, Paul L PL; Goel, Anuj A; Zhang, He H; Peters, Ulrike U; Farrall, Martin M; Orho-Melander, Marju M; Kooperberg, Charles C; McPherson, Ruth R; Watkins, Hugh H; Willer, Cristen J CJ; Hveem, Kristian K; Melander, Olle O; Kathiresan, Sekar S; Abecasis, Gonçalo R GR